1:20 risk of Down's :( Free hcg of 5 and pappa-a of 0.6.

[Sarahpg]

Steph I am just finding this board and your story gives me hope. I had my nuchal on Monday and got results of 1/11 for Down's syndrome- how could this be I am a healthy 24 year old, I was doing this screening as another chance to see baby, not thinking anything could be wrong. The immediately got us in with genetic counselor and we did the maternit21 blood testing on Tuesday so now I am waiting 10-14 days for the results. I am so nervous, scared and shocked. My results were:

Nuchal: 4.3mm
Hcg: 1.09
PAPP-A: 0.26
Odds of downs 1/11

My nuchal measurement is the main concern and then the pappa. I don't know how I am going to get thru the next 2 weeks. The emotions and fear hurts. I hope that in the near future I can update with a good result like yours, but can't help think that I could be the "1". Thanks for sharing your story and inspiration, it really helps to read these and I'm glad I found this thread.

 

[steph.]

Sarah I am so sorry you are going through this. You poor thing, its so scary. I also kept thinking I must be the "1", I think anyone who receives a high risk result focuses on that 1. Try to keep busy until you get your results, I found if I stayed by myself I would inevitably get on google.

I really hope everything turns out ok for you and baby. Will keep you and baby in my thoughts and prayers xxxxx

 

[thayet]

I just found this thread, and was wondering if you had gotten any results back from the MaterniT21 test, sarahpg? I had that test done first, and it came back clear, but my combined screen came back positive so they want to do an amnio this week probably.

I hate how there is nothing to do but wait and worry.

EDIT: also, Steph, I'm glad your results came back clear. I'm a bit terrified of the amnio but hopefully it's not so bad! It's hard to believe they didn't even use a local though.. sort of barbaric.

 

[Sarahpg]

Hi Thayet,

So sorry you are going thru this as well. I am still waiting for my results from maternit21 and its killing me. They said it could have been as early as today and as late as Tuesday. I am really hoping to hear tomorrow or Friday so I don't have to wait another weekend to know.

I saw ur other post as well about taking harmony test after NT at 12 weeks. With ur harmony test, did the results come back as "negative" or a ratio? Here in the US we have BOTH the maternit21 test (that gives a positive or negative result for T21 T13 T18) and the harmony test which gives a ratio ie: 1/600 risk. So if you receive a high risk screening from NT scan plus bloodwork (which i did i was 1:11) they send you to genetic counselor and they discuss materniti21, harmony, cvs and amnio. So just wondering what kind of result you got that was the all clear? Also, what test did you do after your harmony test that now is giving you the 1:8 chance?

Hopefully we can both be out of limbo soon and have some answers for our sanity!

 

[thayet]

Hi Sarah - my integrated prenatal serum screen is what came back with the 1:8 risk factor. I don't know what the individual results are, maybe we'll find out today at the genetic counselor appt. I did the Harmony test at 13 weeks because I was worried about my NT measurement (3.1). The odds of trisomy 21, 18 or 13 all came back as 1:10,000, which is pretty low. I'm just confused - if it's not Down's, what else would cause the papp-a and hcg to be so out of whack??

Anyway hoping your results come back soon.. Hopefully I get more answers today.

 

[Sarahpg]

Thanks for clearing that up Thayet! I understand now. I don't think we have any other screenings other than the first tri NT scan and bloodwork here so not really familiar with what you are getting results from this time around. For the NT scan did they combine that with your hcg and pappa values then too or is this the first time looking at these bloods. I am no expert but I thought hcg and pappa are indicative of t21 13 or 18 so if ur harmony came bk ok I would think ur still ok. Maybe you can request the mAternit21 test now so you get a positive or negative? I'm sure talking with the GC today will make you feel alot better and they will be able to Explain what could be going on in terms that we would understand.

Good luck today and let us know how it goes/ what they think! I am crossing my fingers for my result phone call today...

 

[thayet]

Ugh so I have an ultrasound booked for tomorrow, and the amnio on Tuesday.. It'll be a while before I get any answers. Any phone calls yet?

 

[mommy2lilmen]

Im sorry this is *happening to you*
I want to say I'm kind of upset at your statement that you "I thought this kind of thing happened to other people, not to me. " I can't help but be offended that its coming across as OK for another person to get such news but not to you? Im not saying anyone deserves it, Im just saying it upset me and came across very wrong. I have a baby who is due in 12 weeks with Down Syndrome. I had a 1:5 chance, I was 35 when diagnosed and yes I was upset. not once did I wish it upon someone else rather than myself. I took it as a blessing. this little baby is mine (yours) to raise and be blessed with something so special that not every baby has. Life is dealt with cards in such a way that may not be fair to many. It isn't fair we get this kind of news, but have you had time since posting this to look at the positives that this could be a good thing? I am having my first girl and my family is not happy about that. They think Im being ripped off of my joy of my first girl having these problems. I am looking at it as that I am having my first girl that no one else will have. Someone different. I will also add that the statistics show that *older* moms get this diagnosis, but its all really in the cards that are dealt, You could be 19 first baby and have this or be 35 with 8th baby and have this. KWIM? Have you spoken to anyone? I think it would be beneficial. Lots of love. take care, this baby is special and needs you.

 

[mommy2lilmen]

wanted to add that I did the NT scan, it came back 1:5 , then I had the Harmony test (like MaterniT21) and that came back 99%, so I got the amnio done at that confirmed everything. It was the date that the Harmony Test cameback that I was at peace with the 1:5. They tried to convince me that I may be that 4:5 chance that nothing is wrong.. but after the Harmony Test came back positive. I knew there was no way they can convince me anymore and ruin my heart, I accepted it and went on like that.

 

[Sarahpg]

Mommy2lilmen I think you may have misunderstood some posting here as no one is saying anything that it should happen to other people and not "me". It is more the saying that it was such a shock that it could be "me" as it was never thought about until the risk was presented. As for the age comments, my dr point blank told me that I didn't need the NT scan but could have it if I wanted due to age, so to take it and get 1:11 results was incredibly shocking since I wasn't even going to do the test at all bc I assumed I was such low risk! Even in the shock I knew that I was going to keep my baby and love my baby regardless of the outcome, but opted for the maternit21 so I would have some more answers and be able to prepare for our child. So please do not be offended as someone expecting a DS daughter because that was not the intention and I think most people can relate that waiting for results can make people nutty and this is a place to vent one way or another and seek support. Best of luck to you and your daughetR, I truly believe it is a gift.

Thayet- NO phone call today. I'm getting very impatient. DH called at 1 and the secretary said it had not come on the fax yet and that they come spuratically not all at one set time. Also said in the computer it still said "processing" not " resulted" . Really hoping for an answer tomorrow to not have to wait thru another weekend. I just need to know one way or another so I can move on and prepare for my baby!

 

[steph.]

Mommy2lilmen I am sorry you were upset by the comment, I really didnt mean that it was ok for other people to receive the news. I typed that out when I had just gotten the news and was in complete shock. In all honesty I really didnt expect to come back high risk, naively I thought that by being healthy and young the nt scan was just a formality. I know babies with down syndrome are born to young mums more often than those over 35, but the chances are lower and I never thought i would be in that position. I dont think any of us were prepared for that phone call. Congratulations on you little girl, she is very lucky to have you as her mummy.

 

[thayet]

Im sorry this is *happening to you*
I want to say I'm kind of upset at your statement that you "I thought this kind of thing happened to other people, not to me. " I can't help but be offended that its coming across as OK for another person to get such news but not to you? Im not saying anyone deserves it, Im just saying it upset me and came across very wrong. I have a baby who is due in 12 weeks with Down Syndrome. I had a 1:5 chance, I was 35 when diagnosed and yes I was upset. not once did I wish it upon someone else rather than myself. I took it as a blessing. this little baby is mine (yours) to raise and be blessed with something so special that not every baby has. Life is dealt with cards in such a way that may not be fair to many. It isn't fair we get this kind of news, but have you had time since posting this to look at the positives that this could be a good thing? I am having my first girl and my family is not happy about that. They think Im being ripped off of my joy of my first girl having these problems. I am looking at it as that I am having my first girl that no one else will have. Someone different. I will also add that the statistics show that *older* moms get this diagnosis, but its all really in the cards that are dealt, You could be 19 first baby and have this or be 35 with 8th baby and have this. KWIM? Have you spoken to anyone? I think it would be beneficial. Lots of love. take care, this baby is special and needs you.

I'm sorry you were offended by this comment, but I think you completely misunderstood what the OP was saying. We ALL assume that everything is perfectly fine until we get that phone call, so getting the news that there might be an problem with your baby is upsetting regardless. What she meant was that we all assume that we will be in the 98% of people who have perfectly healthy babies, NOT that it's okay for ANYONE else to be in the unlucky 2% who are faced with challenges.

I understand that your situation is somewhat delicate, and I'm happy you've made peace with your decision. What you need to understand, though, is that not everyone would make the same choice you did when faced with a diagnosis of a chromosomal abnormality. Our choices are our own to make and your judgement of the OP's comment when she was only looking for support (not wishing this on anyone!) is uncalled for.

 

[Lillypots]

any news sarahpg? xxx

 

[Sarahpg]

No news yet my husband called the genetics office to ask how it works with the weekend and the secretary said my results had not come in yet and the office phone closes at 4pm but my genetic counselor is there until 5:30 and checks the fax before she leaves for results and will call if they come in by 5:30. Otherwise they make calls first thing Monday AM for results that come in over the weekend. So it is 3:30 here now so I have 2 hrs left to find out or else it looks like it is going to be another long weekend of not knowing....

I had my regular ob appointment today and my dr was great explained just be patient etc. also got to hear my little ones heartbeat with Doppler which was amazing and she said sounded perfect (bounced between 144-156) and heard this occasional loud Bang on the Doppler which I immediately freaked out (thinking heart defect) but she laughed at me and said no that would be your baby kicking away and said well apparently its beurological system and spine are working correcrly. So baby was very active this am and I enjoyed that.

I just really want my results!!! I need to put this phase in the past and move on with my pregnancy in one direction or another and re-celebrate that I'm having a baby.

Hope everyone has an enjoyable weekend!

 

[Sarahpg]

Lillypots did you ever post your results/ did I miss it?? Hope all is well with u!

any news sarahpg? xxx

 

[thayet]

Hey ladies.. just wanted to update you that I had my ultrasound today. They were able to measure everything and it all looked good. NT measurement was well within normal limits, no cardiac abnormalities were seen, and no soft markers for any known genetic issues. So huge sigh of relief. I have my amnio Tuesday morning and then a fetal echo to further look at the heart on July 5th.

Sarah that sucks that you have to wait over the weekend.. I'm sure the results will be there first thing Monday morning! The waiting is the hardest part but it's good that your OB is supportive and listened to your concerns and tried to put you at ease. I have my fx'd for you.. update us as soon as you hear!

 

[Lillypots]

yeh my harmony test came back clear.i had.my own thread on gestational complications.its took 12 days in total to hear back.mine had to be sent from the uk though.it doesnt take that long is us.i wrote off the weekends when waiting for my results.didnt expect to hear then.you just feel like your lifes on hold dont you until you hear either way.im keeping my fingers crossed every day for you.i wont say try to have a good weekend coz i know you wont.my weekends waiting were horrific.xxxx

 

[Lillypots]

chuffed for you thayet i bet this is a lucky thread were all gona get great news xxx

 

[Sarahpg]

So glad to hear your happy news Thayet! I really hope this is a lucky thread! My genetic counselor called me at 5:15 tonight, my heart stopped when I saw the number on my phone. Unfortunately she was calling to let me know that she still did not have my results and that she called the lab and they said probably Monday, if not Tuesday. She asked if it was a problem with the blood sample (not enough dna or if they had to go to 2nd vial and they said no it was still just processingf) It was nice of her to call with an update but I was hoping for results! Makes me wonder, do positive results take longer as they "double check"? My mind is getting the best of me with thoughts...

She did however have the results of my genetic testing on me to see if I am a carrier of like 12 different things ( cystic fibrosis and a bunch of stuff) which also included being a genetic carrier for translocation Down syndrome (the only form of downs that is genetic). I was especially worried about the translocation downs gene because my paternal aunt had a bunch of miscarriages and had genetics done and she has the translocation downs gene. So my father could potentially have it and pass it to me, which would make my risk be even higher. Anyway, with all that said ALL the genetic carrier results came back negative on me so if my baby does have downs it will truly be the lightning strike and not any pre-determined genetics on my part which makes me feel better to know.

Just trying to get thru this weekend with any shred of sanity I have and praying for the call first thing Monday morning. Thanks for all the encouragement ladies and I love the positive outcome stories that have been flooding this thread.

Lillypots I totally forgot, I followed ur thread before, my brain isn't totally there right now(I guess I'm distracted?!) thanks for reminding me about ur harmony test results

 

[thayet]

Hey that's good news about your genetic analysis, sarah! I'm sorry it's taking so long for the full report. Just waiting for the amnio itself is killing me!

I think this is a lucky thread.. Hopefully we all end up with our perfect little ones after all this worrying